Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNA^phe gene

详细信息    查看全文

• 作者：N. Darin ; G. Kollberg ; A-R. Moslemi ; M. Tulinius ; E. Holme ; M. Andersson Grö ; nlund ; S. Andersson and A. Oldfors
• 关键词：Mitochondrial ; tRNA^phe ; Mutation ; Myopathy ; mtDNA ; Retinal dystrophy
• 刊名：Neuromuscular Disorders
• 出版年：2006
• 出版时间：August 2006
• 年：2006
• 卷：16
• 期：8
• 页码：504-506
• 全文大小：191 K

文摘

We describe a second patient with the 583G > A mutation in the tRNA^phe gene of mitochondrial DNA (mtDNA). This 17-year-old girl had a mitochondrial myopathy with exercise intolerance and an asymptomatic retinopathy. Muscle investigations showed occasional ragged red fibers, 30 % cytochrome c oxidase (COX)-negative fibers, and reduced activities of complex I + IV in the respiratory chain. The mutation was heteroplasmic (79 % ) in muscle but undetectable in other tissues. Analysis of single muscle fibers revealed a significantly higher level of mutated mtDNA in COX-negative fibers. Our study indicates that the 583G > A mutation is pathogenic and expands the clinical spectrum of this mutation.